Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041116
rs886041116
ADNP
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041091
rs886041091
NTRK2
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040857
rs886040857
EIF2S3
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886039529
rs886039529
SCN1A ; SCN1A-AS1 ; LOC102724058
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886039261
rs886039261
DEPDC5
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Epileptic spasms are a feature of DEPDC5 mTORopathy. 27066554

2015
dbSNP: rs879255368
rs879255368
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs879253753
rs879253753
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs878855331
rs878855331
TPP1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853325
rs878853325
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853324
rs878853324
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853323
rs878853323
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853322
rs878853322
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853283
rs878853283
FRRS1L
CUI: C0036572
Disease: Seizures
Seizures 		AT 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853282
rs878853282
FRRS1L
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853281
rs878853281
FRRS1L
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853280
rs878853280
FRRS1L
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853169
rs878853169
NBEA
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018
dbSNP: rs878853164
rs878853164
KMT5B
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853161
rs878853161
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs876661308
rs876661308
MEF2C
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693

2016
dbSNP: rs876660634
rs876660634
PTEN
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs876657399
rs876657399
SCN8A
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs875989830
rs875989830
SATB2
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR